"Suffering the Slings and Arrows of Outrageous Fortune"

Em was seen at Urgent Care on March 19th for a ruptured eardrum and treated for an ear infection. She finished out her antibiotics and that ear never really got better.

Late last week, she started complaining that it was really hurting again. So, I looked at it.

(My mom ordered us this otoscope which arrived in time for me to be able to see the rupture after it was confirmed and to be able to see that there was something not right with that ear now. Honestly, I have no idea what I am looking at. I am not a doctor. Don’t want to be a doctor. It all kind of creeps me out. But with the help of the included guide and the internet, I am able to have at least enough of a clue to say we need to head to the doctor. Speaking of which, it is nearly impossible to get in to her ENT, even in an emergency, so he really isn’t very useful at the moment but whatever. Sadly, the Urgent Care staff knows us by sight at this point. We were just there on the 29th because she had dislocated her thumb badly and we weren’t sure if it was back in. Sigh. )

Anyway, I really had no idea what I was seeing but it looked bubbly and yellow, which I assumed was an infection. So I dragged her to Urgent Care Saturday afternoon so they could confirm it indeed was infected and give her more antibiotics. It was another one of those days where she physically wasn’t up to going but she has 3 brain MRIs on Tuesday and we really needed to address her ear before then. So, we went and hopefully this round of antibiotics kicks the problem.

I would just love for someone to explain to me what the heck is going on. This kid never, ever had ear infections as a child. Not once. Not until she was 17. Now, in 6 months she has had 6, including a fungal infection. 2 ruptured ear drums (at least). What gives? She doesn’t swim, she doesn’t take baths. She is not getting water in her ear from an outside source. Beyond wanting it to stop, I want someone to figure out why it is happening.

She has a follow up appointment with the ENT on the 26th and I am hoping we can make it until then without another trip to Urgent Care. She has more than enough problems to be dealing with right now without this ongoing crap. It is beyond ridiculous at this point.

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I haven’t posted in regards to the important neurology appointment we had this month. Em had been referred to a neurologist at OSU at my request, so we could try to get a diagnosis – either of CRPS or small fiber neuropathy or something. Then the labs done during her LP in January showed some concerning markers for MS and sarcadosis and her local neuro wanted her to see someone more knowledgeable than him. Since we already had this appointment set up, it could serve both purposes. Then, the seizure-like episodes started and added an additional layer of wackiness.

We have learned the hard way not to put too much hope or weight on any single appointment, but I would be lying if we didn’t at least sort of hope deep down that he would be able to give us a diagnosis and a quick solution on the first visit. When he didn’t, it was a little disappointing and overwhelming.

What he did was listen and order a bunch of testing:

He ordered an inpatient stay on the Epilepsy Monitoring Unit to try and figure out what is going on with these episodes. (Side note: after a month and a half of them and a helpful hint from a reader, I think we have a direction to go in. Video EEG monitoring is definitely needed, but will only be a start. More about that soon!) He definitely agreed that we need to rule out all the medical possibilities before jumping to the conclusion they are psychogenic. Don’t have this scheduled yet, but hopefully we can get it done soon, figure out what the heck is going on and stop it.

He ordered a bunch of labs, including mast cell testing. No one, including the allergists Em has seen has been interested in pushing for an actual diagnosis or any treatment other than Zyrtec and Zantac. It would be nice to have someone actually helping with this.

He ordered 3 brain MRIs – one with and without contrast, a MRI Angio and MRI Venogram. I am assuming these will help rule in/ out several things, MS for one. He also was not thrilled with the fact that she has been on Diamox for several years with no evidence and is wanting to make sure there is no structural issue causing her high pressure headaches. He did say he wouldn’t mess with her Diamox but he was clearly skeptical. However, he was shocked that cervical fusions are so common for treating neuro symptoms in EDS. We definitely agreed that it was wise to avoid a fusion if possible so that was a start. Perhaps, with time, I can help him understand the rational of the Driscoll Theory and why we absolutely believe Diamox saved Em’s life. There was just too much to cover in this first visit.

He ordered an nerve conduction study. This is definitely looking at CRPS but her exam also showed some very concerning numbness in her legs. I knew she had numbness but it was far worse than we knew. He pricked her all over with a pin. She mostly could not feel it in large areas on her legs. Like, at all. Her feet and hands are numb but her legs in particular have very little feeling. He seemed concerned. I know I was. So, perhaps we are looking at a neuropathy instead of CRPS? She is having increasing difficulty walking and I have to wonder if this is part of the problem. I don’t know but it is more than a little scary.

He ordered more autonomic testing – another Tilt Table Test and a sweat test and 24 hour Holter Monitoring. He is concerned that much of her problem is autonomic related and seemed to get caught up in the fact that she hasn’t been diagnosed specifically with POTS by the cardiologist. I am honestly not sure what a name does in this case – the cardiologist is treating her for/ as if she has POTS but has said he didn’t want to label it POTS because it is more complicated. So we have just used the term “Autonomic Dysfunction” this whole time. I am conflicted on this – on one hand, I totally agreed with the Autonomic Dysfunction diagnosis as opposed to POTS. On the other hand, I have felt for a long time that they are not doing much for her at the Syncope Clinic. We go once a year and they say, “Increase your Midodrine; see you next year”. So, maybe this reset is what we need. But… I absolutely dread the idea of another Tilt Table Test for her. He says the one she had several years ago wasn’t good enough, that he needs more information. I am not sure I totally see the point, especially considering she will have to be off ALL her pain meds for 3 days. I can’t even say how awful that will be. We are holding off on scheduling this until we talk to him again. We will need some help, some plan to make this happen – a 2 hour car trip is bad enough on a good day, I cannot even fathom how she would manage that trip without pain meds. If it is not absolutely necessary, I can’t put her through that. Yet, I wonder if maybe, with as dire as the situation is, it is necessary to figure out what is going on.

We liked him well enough, but the whole thing was a little overwhelming – he was very clinical, very data oriented and it was both comforting and annoying. Em was frustrated – exhausted, in more pain than she was in to begin with – because while she couldn’t feel most of the pin pricks, it still caused her pain to spike terribly afterwards – and terrified of having to go off her meds. So, she was not exactly rational about the whole thing, not that I blame her.

I eventually came to the realization that he addressed every single issue we brought up with him. He ignored nothing we said and is looking at everything. He was skeptical about CRPS, because it certainly shouldn’t present quite like she does. So it might be a that she has CRPS but the full body pain might be down to Central Sensitization or neuropathy or something else entirely. He seemed to know a little bit about EDS – certainly he knew the connection between EDS and POTS – so we will have to see what level of knowledge he has as time goes by.

The thing that really got me, was that he wanted to see her back in 4 months. When we actually scheduled that appointment, I realized it will be 2 weeks shy of a year since this all started. A year of this torture and no relief in sight. I know the wheels of medicine turn slowly and that we need time to get all of this testing done before we see him again, but knowing we are at least 4 months from any help was absolutely crushing.

So, we are getting all of this testing scheduled and completed and just hunkering down and trying to survive.

Last Tuesday, we had our long awaited visit with the neurologist at OSU. It is complicated and we are still absorbing it. I will post later this week about it – I think my head is finally to the point that I can write about it.

But the fun, and I say that with the greatest sarcasm, never stops around here. A couple weeks ago, Em dislocated her thumb badly (as only an EDSer can) and we are probably going to have to get it looked at. Not getting better on its own and isn’t likely to, I think.

Then, on Friday, we were coming home from Speech Therapy and had just pulled into our driveway, when Em suddenly felt a loud pop in her ear and got very dizzy. We knew there was fluid behind her ear drum but had been told to just keep an eye on it. Honestly, it never stopped hurting – she just didn’t complain much about it in the last couple weeks because she had so many things going on: something like an ear ache just doesn’t register very high on the priority list when everything is falling apart.

I called the ENT – it was late on Friday afternoon so I really didn’t think there was any chance of him seeing her and I found out he wasn’t in anyway so it was a wasted call. The nurse said to just go to Urgent Care. We were both too tired to deal with it on Friday but when her ear still hurt and she was still so dizzy on Saturday, off we went.

Sure enough, her ear drum is perforated. Again. She is on antibiotics and I guess we just wait it out. She has an appointment with the ENT in April, but I guess if it continues to be a problem I can call and hope he can see her earlier. Clearly, something is going on with that ear – not sure what it is and no one seems terribly interested in figuring it out. At least the perforation is documented and we know to be very careful about getting fluid in her ear for awhile. (I still think she had a CSF leak in her ear and that was the fluid buildup, but what do I know?)

The funny part about our Urgent Care visit, is that the Neurology Nurse Practicioner who has seen her for 4 1/2 years (and is the one who prescribed her Diamox) works over there on weekends and he is the one who saw her. So, we had a little impromptu neurology visit and were able to update him on what all has happened since we last saw him. I was still pretty ticked about the fact that he tried to send Em to psychiatry for her seizure episodes but I let that pass and opted not to strangle him or anything. We are getting the episodes addressed and he is fine with the course we are on (not that it would matter if he wasn’t, tbh) so it wasn’t a bridge that needed burning on that day.

I will update more about the episodes in the near future as well, since the new neuro is addressing them. Brian did earn back a few points when he asked what antibiotics she could safely take. He knows she is complex and I appreciated that. And he totally understood when I said anything but the fleuroquinilones. I might be able to eventually forgive him assuming her seizures are psychogenic before attempting to rule them out. Maybe.

So, anyway, another perforated ear drum – the second since November. Like she needs another problem.

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Every once in a while, amid utter frustration and continual wearing down by the whole medical system, we get a win. Perhaps not a huge victory in the big scheme of things and there are certainly bigger battles looming. There are lots of ups and downs on this journey, even with doctors we like and respect, and that makes for a bumpy ride. But, when we actually have a great experience, especially when we weren’t expecting it, it gives us strength to keep going.

Em’s follow up with the Cardiology Syncope Clinic this past week is a good example of such a time. She has been seen in the Syncope Clinic for 3 years or so. We like the doctor, although for a while now, we have felt a growing ambivalence about him and her treatment. So often, what we have experienced, even at Cincinnati Children’s is a subtle communication that it is all EDS and there just isn’t much to do outside their carefully constructed box of best practices. When we threw CRPS at the docs down there, everyone we saw just kind of said, “Oh, that is too bad. Not sure what to tell you. Good luck!” So, as much as I like some of the doctors, we don’t always feel like we are getting anywhere. That is not a big deal when things are going well, but when things are not going well and you need help, it is a very big deal.

We went into this appointment, with rather low expectations and fully expecting it would be like the most recent follow ups: the nurse would ask a bunch of questions, we would see the doc for maybe 10 minutes, he would say increase your meds if you need to and we would be on our way.

Em was exhausted and feeling awful. It is a twoish hour trip and she doesn’t travel well on a good day and getting up early just makes it a not at all good day. She was in a lot of pain and her head was hurting. She had one seizure in the car on the way. She typically has little patience for being asked a ton of pointless questions and being treated like a statistic rather than a living, breathing person who is suffering. (This isn’t necessarily how she IS being treated but definitely how she perceives it.) On Wednesday, she had even less patience than usual and was ready to let somebody have it, even if it was undeserved or unwise.

As the mom, I always feel like I am walking a mine field between Emily, who is rightfully sick and tired of being sick and tired, and doctors who have an awful lot of power over us and who just don’t quite “get it”. I was just thankful they didn’t make her do the questionnaire like in the past: if they had tried, there would have been a visible mushroom cloud over Cincinnati and the news would have reported that the epicenter of the explosion was on the 4th floor of location C at Children’s.

So, the appointment proceeded as usual – the very sweet nurse took all of the info of what had been happening since we had seen them a year ago. There was an awful lot to share so it took awhile. Then we were informed that we would be seeing the Nurse Practitioner, instead of the doctor. We weren’t sure if that would be a good thing or a bad thing because we had never seen her before, so we were both sort of “meh” about it. Honestly, with our recent luck, we had little reason to expect much good.

Martha popped into the room with a smile and introduced herself. She talked about how to tweak Emily’s medicine to make it work a little better. We talked about Em seeing the doctor at OSU in a couple weeks and she put any med changes in our hands in light of seeing him. We could stay the course with Midodrine, increasing it for now. Or we could add something, although she was a little reluctant in light of everything going on and not wanting to muddy the waters for the new doc. And, she said, if we get to him and he wants to add a med but wants them to follow up with it, to just call and it will be no problem. We opted to increase her Midodrine for now but hold off on beta blockers, etc until we talk to him. It was refreshing to be given options and allowed to choose the best course.

She actually gave some practical advice – if support stocking are painful and hard to wear, abdominal binders might be better/ easier and even wearing spanx (bicycle length) can help. Further, she suggested wearing two pairs of leggings (she and I are both of an age that once upon a time called them stretch pants and we both chuckled about that) – that doubling them up may give enough compression that it could help. She was quick to point out this was not supported by any medical data, but that people have found it useful. She and Dr. Grubb’s NP, Barbara, share ideas so I know she is getting information from a very reliable source. These ideas may or may not help Em, but the point is she was trying to offer practical solutions rooted in the real world, not some medical fantasy land.

Speaking of medical fantasy land, the current recommendations from Genetics and Cardiology for improving EDS and POTS, is 30 minutes of exercise a day. This exercise should have the heart rate elevated but cannot be done from an upright position. So, something like a rowing machine or recumbent bike. They apparently have had good results and if Em were well enough, we would probably be eager to try this. But, after the CRPS started and she had ear infections and a concussion and lumbar puncture and blood patch and now seizures, this just is not feasible. Martha recognized that and didn’t even give us the speech. She just suggested Em try to stand for a couple minutes, leaning against the wall and do a few modified squats each day, careful not to dislocate her knees.

When I asked if it would be wise to do some blood work to check Em’s electrolytes in light of her seizures and needing to figure out what is causing them and maybe rule some things out, she said the blood work wouldn’t be very useful to HER but if I wanted it for the OSU doc and for when we see the epileptologists, she would order it. So she went down the list of options and ordered everything that might be helpful. When we were ready to leave, the nurse brought the printed orders to me (we can’t have blood work done there, have to do it at home thanks to insurance) I suddenly recalled that the electronic signature they use isn’t sufficient for our hospital – they always have to call and get a signature faxed and it is generally a pain in the butt. So, I apologetically asked if she could sign it by hand. But, since there were about a billion (give or take) separate orders, the nurse said she would have to sign each one. I hated to bother her with that since she had spent so much time with us already, but the nurse said it wasn’t a problem and Martha signed each order for us.

She was just so kind and supportive – inquiring about Em’s mental health and morale in a way that was genuinely caring and not clinical or intrusive. Far more than the electronic questionnaire that asks Em to rate how often she has felt depressed via a rubric of Never, Occasionally, Often, or Always.

And, when we were wrapping up the appointment, she wanted to know if there was anything else she could do for us. I had a request that was a little odd for a cardiology visit and probably would not have asked if we had seen the doc instead of the NP. Em’s ear has been hurting a lot again. We weren’t sure if it is just being aggravated by her jaw or if it was actually infected again. Getting an emergency appointment with the ENT is challenging so if it is not visibly infected, well, maybe we just wait and see.

When I explained all that and asked if she would just peek in that ear and give us some guidance, she had no problem doing so. She looked in both ears, then in that misbehaving right one for a long time. (Which is what every single person who has ever looked at her ears has done, trying to figure out what the heck they are seeing.) Finally, she grabbed a marker and drew a diagram of what she saw on the whiteboard. She saw fluid in that ear, probably not infected yet but definitely fluid, and scar tissue from what looks like a previous perforation. Her suggestion was to give the ENT a call if it keeps hurting or gets worse, which was precisely the advice I needed.

She spent about 45 minutes with us and it has been a long time since we felt so cared for, certainly down at Cincinnati. When she walked out of the room, I looked at Emily and told her we needed to kidnap Martha and keep her with us all the time. Emily, who had been ready to go in to this appointment with guns blazing, agreed completely and was laughing with me about my goofy suggestion. It is truly amazing the impact a single person can have on the people around them and how far a little kindness and support can go towards making someone who is suffering feel better about the world and giving them the strength to carry on.

I wish all appointments could be like that for EVERYONE who is in our shoes, but, since that is wishful thinking, I will just be very thankful for Martha and her kindness at a time when we really needed it.

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We still don’t have any answers about the episodes Em has been having and they continue daily. The EEG showed no signs of epileptic activity (although, I have not actually seen the report – only been told what it said – so I am not sure exactly what was found or how it was worded) even though she had an episode during the test.

Initially, I was told because the EEG was normal, they were assuming the episodes are psychological and wanted to refer Em to psychiatry. I threw a bit of a fit and they have referred her instead to the seizure experts at Children’s. These episodes could be psychogenic in origin, but I think it profoundly, appallingly lazy to assume so without first ruling out actual medical causes. And there are plenty of medical causes that need to be looked at. If we find a psychological cause – and chronic pain and the emotional trauma of living with a few rare sucky conditions which are routinely trivialized by doctors who are supposed to help theoretically could be enough to cause it – then we will do whatever needs to be done.

But, I am just not really buying it yet and they will have to go a long way to convince me. And I won’t rest until we have fully examined all the possibilities because I believe it would be far more dangerous to ignore medical issues in favor of a psych label than to put off a psych label while exploring medical explanations. It seems to me that the fact that she had a concussion, which can cause seizures, should be considered. The fact that she has autonomic dysfunction, should be considered. The fact that cervical instability could be the culprit, should be considered. The fact that she clearly has all kinds of central nervous system inflammation going on, should be considered. The fact that some types of seizures are not easily caught on EEG (in particular, the type I initially suspected she might be having), should be explored. So, hopefully we end up with some really smart, really useful docs who can help us figure this out and don’t rush to a psych diagnosis.

Needless to say, the suggestion that these episodes are psychological has not been a happy one and we are working through that – it felt like a huge slap in the face to Em. Ironically, if we are going on the theory that the emotional trauma inflicted by living with EDS and by being marginalized by doctors are at the root of this, the suggestion that the seizures are psychogenic simply add to the emotional trauma. That irony will likely be lost on the doctors.

I do need to say though, that IF her episodes end up being pyschogenic, they are very real seizures. Real seizures; not faked, not put on, not under her control at all. They would be handled the same way any other seizure is handled, safety being the primary concern. It is the treatment that would be different – instead of seizure meds, it would be a matter of any number of psych based therapies.

We want answers and treatment – whatever those are – but the answers must be genuine and not merely convenient.

So, at the moment, we are waiting to schedule an appointment with docs who hopefully know how to help. Waiting, waiting, waiting…

Today is Rare Disease Day, with a focus on Making the Voice of Rare Diseases Heard.

Usually, I write a post on the theme because I feel strongly about this. Ironically, I am feeling overwhelmed by actually living with our allotment of rare diseases and just don’t have the brain power to write something brilliant.

I can share some links that will help you share some awareness on social media. Use your platform to share information because giving a voice to this cause is important. Make your voice heard and support the Rare Disease Community!

Emily had her EEG on Monday afternoon. Amazingly, she had two episodes – perfectly representative of what she normally does – during the test. We could not have planned or timed it better!

She started having a few sporadic twitches as she was being prepped and I knew we were on borrowed time. I got to stay with her; I had been worried about it and was grateful that I didn’t have to leave. The tech started the test and had her essentially hyperventilate for 3 minutes. After about a minute of that, I could see that she was starting to fade, but she completed the 3 minutes then said she felt like she was going to have one. A few seconds later, she went limp and stopped responding. She twitched and jerked every 10 seconds or so and the tech recorded those in her notes. She started having labored breathing and gasping for air like she usually does. At about the 5 minute point, her eyes opened and she was able to respond a little, although she was still dazed.

Then she went straight into the second episode. This one was longer – about 10 minutes and the twitching and jerking was stronger and more frequent. The tech finally gave up recording each jerk because she couldn’t type fast enough. Again, she had labored jerky breathing and I had to remind her to breathe a few times. She finally opened her eyes and could respond. Once she recovered a little the tech was able to complete the EEG and we were done in less than an hour. She twitched and jerked during the strobe test, but didn’t go into an episode.

So, I feel like they should have gotten pretty good information from the EEG. It very well may not show anything, depending on what is causing the episodes (I really want to just call them seizures and be done with it but I won’t yet). But, she had two episodes and that is all we can ask for – they were witnessed and documented so we have some validation. I do wish they could have caught the second, more visual/ sensory type during the test as well but those happen much later in the day so it never likely that she would have that kind then anyway. I am grateful they saw anything, to be honest.

I am waiting to hear the results from the doctor. They didn’t call first thing this morning so I left a message, because it may not seem urgent to them but it surely is to us.

She has now had 35 episodes since the 9th and that will, if the pattern holds, increase to 38 or 39 this afternoon. They are getting longer and stronger. Last night, she had the visual type combined with the unresponsive type and jerked constantly for 6 minutes – she swayed, then saw the usual light and visual distortions, then went limp. I laid her back on the pillows where she jerked and twitched worse than she has before. Then it was over and she was fine, after she got over feeling like she had been run over by a truck.

She is having less warning before it happens, so she is less able to call for help. She is going limp quicker, which means, if it hits when she is upright, she could be seriously hurt. Realistically, it is just a matter of time before that happens, unless she gets some effective treatment, asap. So, if I make a nuisance of myself, so be it. If the doctor’s office is annoyed, they can deal with it and come up with a plan or refer us promptly to someone who can.

But, the upside is that she had episodes during the EEG so I am hopeful that they gathered information that will help us get to someone who can helps us figure this out. Because, frankly, it sucks. A lot. And we have to do something. Soon.

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Welcome!

Thanks for visiting my blog where I chronicle 'Our Life with Ehlers Danlos Syndrome'. I am sharing my family's journey with EDS (and everything that goes along with it) in the hope that our experiences will help someone else.

Go to Our Story to read about the early days of our EDS journey. Or click here to go to the first post of this blog, if you would like to start at the beginning.

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